RESUMO
Reciprocal rearrangements of the MLL gene are among the most common chromosomal abnormalities in both Acute Lymphoblastic and Myeloid Leukemia. The MLL gene, located on the 11q23 chromosomal band, is involved in more than 40 recurrent translocations. In the present study, we describe the development and validation of a biochip-based assay designed to provide a comprehensive molecular analysis of MLL rearrangements when used in a standard clinical pathology laboratory. A retrospective blind study was run with cell lines (n=5), and MLL positive and negative patient samples (n=31), to evaluate assay performance. The limits of detection determined on cell line data were 10(-1), and the precision studies yielded 100% repeatability and 98% reproducibility. The study shows that the device can detect frequent (AF4, AF6, AF10, ELL or ENL) as well as rare partner genes (AF17, MSF). The identified fusion transcripts can then be used as molecular phenotypic markers of disease for the precise evaluation of minimal residual disease by RQ-PCR. This biochip-based molecular diagnostic tool allows, in a single experiment, rapid and accurate identification of MLL gene rearrangements among 32 different fusion gene (FG) partners, precise breakpoint positioning and comprehensive screening of all currently characterized MLL FGs.
Assuntos
Biomarcadores Tumorais/genética , Proteínas de Ligação a DNA/genética , Leucemia/genética , Análise de Sequência com Séries de Oligonucleotídeos/métodos , Proteínas de Fusão Oncogênica/genética , Proto-Oncogenes , Fatores de Transcrição , Translocação Genética , Doença Aguda , Linhagem Celular Tumoral , Cromossomos Humanos Par 11/genética , Proteínas de Ligação a DNA/metabolismo , Rearranjo Gênico , Histona-Lisina N-Metiltransferase , Humanos , Leucemia/diagnóstico , Proteína de Leucina Linfoide-Mieloide , Análise de Sequência com Séries de Oligonucleotídeos/instrumentação , Proteínas de Fusão Oncogênica/análise , RNA Neoplásico/genética , RNA Neoplásico/metabolismo , Reprodutibilidade dos Testes , Estudos Retrospectivos , Sensibilidade e Especificidade , Dedos de ZincoRESUMO
We report a retrospective series of 126 patients seen in 1992 for conservative surgery (group T) or Patey procedure (group P) for breast cancer. We looked for factors predictive of axillary lymphocele and their prevention. Axillary lymphadenectomy performed in patients undergoing surgery for breast cancer leads to a certain degree of morbidity including the development of lymphoceles. The mean number of lymph nodes removed was 16 in group T and 19 in group P. Mean lymphorrhea was 741 cm3. Two factors were significantly implicated in the pathogenesis of postoperative lymphorrhea : the number of nodes resected (p < 0.005) and obesity (p < 0.001). Prevention of lymphoceles requires meticulous lymphostasis and reduction of the surgical detachment spaces.
